Mutagenetix > Incidental Mutation

Incidental Mutation 'R3784:Nsa2'

272192

Institutional Source

Beutler Lab

Gene Symbol

Nsa2

Ensembl Gene

ENSMUSG00000060739

Gene Name

NSA2 ribosome biogenesis homolog

Synonyms

Yr29, 5730427N09Rik, LNR42, Nsa2p

MMRRC Submission

040876-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3784 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97265935-97274434 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 97272042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 60 (Q60K)

Ref Sequence

ENSEMBL: ENSMUSP00000073161 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022170] [ENSMUST00000042084] [ENSMUST00000073456] [ENSMUST00000160139] [ENSMUST00000161639] [ENSMUST00000161825] [ENSMUST00000225410] [ENSMUST00000161929] [ENSMUST00000169863] [ENSMUST00000161913]

AlphaFold

Q9CR47

Predicted Effect

probably benign
Transcript: ENSMUST00000022170

SMART Domains

Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	66	349	9.9e-64	PFAM
Pfam:GTP_EFTU_D2	379	446	4.3e-8	PFAM
low complexity region	447	473	N/A	INTRINSIC
Pfam:EFG_II	482	556	3.9e-29	PFAM
EFG_IV	558	677	2.94e-17	SMART
EFG_C	679	766	1.9e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000042084

SMART Domains

Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	68	324	4.6e-64	PFAM
Pfam:GTP_EFTU_D2	354	421	4.2e-8	PFAM
low complexity region	422	448	N/A	INTRINSIC
Pfam:EFG_II	457	531	3.7e-29	PFAM
EFG_IV	533	652	2.94e-17	SMART
EFG_C	654	741	1.9e-20	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073456
AA Change: Q60K

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073161
Gene: ENSMUSG00000060739
AA Change: Q60K

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S8e	1	259	1.3e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160139

SMART Domains

Protein: ENSMUSP00000124426
Gene: ENSMUSG00000021666

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	68	241	3.5e-56	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161518

Predicted Effect

probably benign
Transcript: ENSMUST00000161639

SMART Domains

Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	68	351	1.2e-68	PFAM
low complexity region	449	475	N/A	INTRINSIC
Pfam:EFG_II	484	558	4.5e-30	PFAM
EFG_IV	560	679	2.94e-17	SMART
EFG_C	681	768	1.9e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161825

SMART Domains

Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	68	351	2.3e-64	PFAM
Pfam:GTP_EFTU_D2	381	448	1.1e-8	PFAM
low complexity region	449	475	N/A	INTRINSIC
Pfam:EFG_II	484	558	7.1e-30	PFAM
EFG_IV	560	679	2.94e-17	SMART
EFG_C	681	738	3.46e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161843

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225410
AA Change: Q60K

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000161929

SMART Domains

Protein: ENSMUSP00000125306
Gene: ENSMUSG00000021666

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	68	94	1.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169863

SMART Domains

Protein: ENSMUSP00000126209
Gene: ENSMUSG00000041817

Domain	Start	End	E-Value	Type
low complexity region	374	386	N/A	INTRINSIC
low complexity region	602	619	N/A	INTRINSIC
low complexity region	630	642	N/A	INTRINSIC
low complexity region	650	663	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161913

SMART Domains

Protein: ENSMUSP00000124253
Gene: ENSMUSG00000021666

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	68	351	3.3e-64	PFAM
Pfam:GTP_EFTU_D2	381	448	3.2e-8	PFAM
low complexity region	449	475	N/A	INTRINSIC
Pfam:EFG_II	484	532	2.1e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224980

Meta Mutation Damage Score

0.0919

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (44/44)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleolar protein involved in cell cycle regulation and proliferation. This gene was identified based on sequence similarity to a highly conserved Saccharomyces cerevisiae gene encoding a pre-ribosomal protein, which is involved in large ribosomal subunit biogenesis. The encoded protein is found at elevated levels in diabetic nephropathy. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
3110082I17Rik	G	T	5: 139,441,197 (GRCm39)	P35Q	probably damaging	Het
Adam11	T	C	11: 102,665,193 (GRCm39)		probably null	Het
Ank2	A	G	3: 126,746,842 (GRCm39)	L581P	probably damaging	Het
Armc2	T	C	10: 41,798,190 (GRCm39)	I779V	probably benign	Het
Atp8a2	A	T	14: 60,011,415 (GRCm39)	Y965N	probably damaging	Het
C3	A	G	17: 57,533,067 (GRCm39)	V146A	probably damaging	Het
Cfap206	A	T	4: 34,716,445 (GRCm39)	I340N	probably damaging	Het
Col3a1	A	G	1: 45,386,295 (GRCm39)	D145G	probably damaging	Het
Drosha	A	G	15: 12,890,615 (GRCm39)	D954G	possibly damaging	Het
Fam161b	A	T	12: 84,408,464 (GRCm39)		probably null	Het
Fat2	C	T	11: 55,147,012 (GRCm39)	A3995T	probably benign	Het
Foxg1	A	G	12: 49,432,382 (GRCm39)	T372A	probably benign	Het
Heatr1	G	T	13: 12,449,341 (GRCm39)	L1946F	probably damaging	Het
Hook1	T	C	4: 95,877,888 (GRCm39)	F55L	probably damaging	Het
Iars2	T	C	1: 185,019,328 (GRCm39)	K986R	probably benign	Het
Inpp5k	T	C	11: 75,538,512 (GRCm39)	L461P	probably damaging	Het
Klra8	T	A	6: 130,102,018 (GRCm39)	D139V	probably benign	Het
Mical3	T	C	6: 120,998,298 (GRCm39)	Y20C	probably benign	Het
Myo15a	A	T	11: 60,368,398 (GRCm39)	Y386F	probably damaging	Het
Ncoa6	G	A	2: 155,249,677 (GRCm39)	T1209I	probably damaging	Het
Olfml2b	A	G	1: 170,509,551 (GRCm39)	D633G	probably damaging	Het
Plekhg3	T	C	12: 76,607,294 (GRCm39)		probably null	Het
Plxna2	T	A	1: 194,326,925 (GRCm39)	D286E	probably benign	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Prmt7	C	A	8: 106,968,768 (GRCm39)	Q361K	probably benign	Het
Prrc2c	T	C	1: 162,537,238 (GRCm39)		probably benign	Het
Psg27	T	A	7: 18,294,279 (GRCm39)	Q376L	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rad51b	C	T	12: 79,347,419 (GRCm39)	Q28*	probably null	Het
Rala	T	A	13: 18,057,031 (GRCm39)	E185V	probably benign	Het
Sall4	A	G	2: 168,598,043 (GRCm39)	S266P	probably damaging	Het
Senp6	T	G	9: 79,999,568 (GRCm39)	I74S	probably benign	Het
Spats2l	A	G	1: 57,924,938 (GRCm39)	E112G	probably damaging	Het
Synrg	T	C	11: 83,892,746 (GRCm39)	F613S	probably damaging	Het
Taf15	G	A	11: 83,397,248 (GRCm39)	D313N	unknown	Het
Tekt1	A	G	11: 72,235,720 (GRCm39)	I376T	probably damaging	Het
Thbs4	T	C	13: 92,909,672 (GRCm39)	N375S	probably benign	Het
Tubb6	A	G	18: 67,526,063 (GRCm39)	T72A	possibly damaging	Het
Txndc16	A	T	14: 45,403,343 (GRCm39)	V32E	probably damaging	Het
Vmn1r200	A	T	13: 22,580,025 (GRCm39)	Y276F	possibly damaging	Het

Other mutations in Nsa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01726:Nsa2	APN	13	97,268,525 (GRCm39)	missense	probably damaging	1.00
R3783:Nsa2	UTSW	13	97,272,042 (GRCm39)	missense	possibly damaging	0.93
R3786:Nsa2	UTSW	13	97,272,042 (GRCm39)	missense	possibly damaging	0.93
R3787:Nsa2	UTSW	13	97,272,042 (GRCm39)	missense	possibly damaging	0.93
R3878:Nsa2	UTSW	13	97,268,542 (GRCm39)	missense	probably benign	0.05
R7466:Nsa2	UTSW	13	97,267,728 (GRCm39)	missense	probably benign	0.08
R9274:Nsa2	UTSW	13	97,272,170 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCAGCAGATAGGCAGGGAC -3'
(R):5'- GTGTAAGCACATGAATACTGTCC -3'

Sequencing Primer
(F):5'- GGTTCAGAATGTGCACAG -3'
(R):5'- CGACCACCTGTAATGAGATCTGATG -3'

Posted On

2015-03-25